Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23389
Gene name Gene Name - the full gene name approved by the HGNC.
Mediator complex subunit 13L
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MED13L
Synonyms (NCBI Gene) Gene synonyms aliases
MRFACD, PROSIT240, THRAP2, TRAP240L
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.21
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the he
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121918333 T>C Pathogenic Coding sequence variant, missense variant
rs147976828 G>-,GG Pathogenic Frameshift variant, coding sequence variant
rs370245982 G>A Conflicting-interpretations-of-pathogenicity Intron variant
rs869025286 CT>- Pathogenic Coding sequence variant, frameshift variant
rs869025287 GCCAATAT>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016185 hsa-miR-590-3p Sequencing 20371350
MIRT027821 hsa-miR-98-5p Microarray 19088304
MIRT028166 hsa-miR-93-5p Sequencing 20371350
MIRT052519 hsa-let-7a-5p CLASH 23622248
MIRT051444 hsa-let-7e-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003712 Function Transcription coregulator activity IEA
GO:0003713 Function Transcription coactivator activity IDA 22249253
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm TAS
GO:0006357 Process Regulation of transcription by RNA polymerase II IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608771 22962 ENSG00000123066
Protein
UniProt ID Q71F56
Protein name Mediator of RNA polymerase II transcription subunit 13-like (Mediator complex subunit 13-like) (Thyroid hormone receptor-associated protein 2) (Thyroid hormone receptor-associated protein complex 240 kDa component-like)
Protein function Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11597 Med13_N 11 261 Mediator complex subunit 13 N-terminal Domain
PF18296 MID_MedPIWI 1416 1760 MID domain of medPIWI Domain
PF06333 Med13_C 1796 2199 Mediator complex subunit 13 C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain (cerebellum), heart (aorta), skeletal muscle, kidney, placenta and peripheral blood leukocytes. Highly expressed in fetal brain. {ECO:0000269|PubMed:14638541, ECO:0000269|PubMed:15145061}.
Sequence
MTAAANWVANGASLEDCHSNLFSLAELTGIKWRRYNFGGHGDCGPIISAPAQDDPILLSF
IRCLQANLLCVWRRDVKPDCKELWIFWWGDEPNLVGVIHHELQVVEEGLWENGLSYECRT
LLFKAIHNLLERCLMDKNFVRIGKWFVRPYEKDEKPVNKSEHLSCAFTFFLHGESNVCTS
VEIAQHQPIYLINEEHIHMAQSSPAPFQVLVSPYGLNGTLTGQAYKMSDPATRKLIEEWQ
YFYPMVLKKKEESKEEDELGY
DDDFPVAVEVIVGGVRMVYPSAFVLISQNDIPVPQSVAS
AGGHIAVGQQGLGSVKDPSNCGMPLTPPTSPEQAILGESGGMQSAASHLVSQDGGMITMH
SPKRSGKIPPKLHNHMVHRVWKECILNRTQSKRSQMSTPTLEEEPASNPATWDFVDPTQR
VSCSCSRHKLLKRCAVGPNRPPTVSQPGFSAGPSSSSSLPPPASSKHKTAERQEKGDKLQ
KRPLIPFHHRPSVAEELCMEQDTPGQKLGLAGIDSSLEVSSSRKYDKQMAVPSRNTSKQM
NLNPMDSPHSPISPLPPTLSPQPRGQETESLDPPSVPVNPALYGNGLELQQLSTLDDRTV
LVGQRLPLMAEVSETALYCGIRPSNPESSEKWWHSYRLPPSDDAEFRPPELQGERCDAKM
EVNSESTALQRLLAQPNKRFKIWQDKQPQLQPLHFLDPLPLSQQPGDSLGEVNDPYTFED
GDIKYIFTANKKCKQGTEKDSLKKNKSEDGFGTKDVTTPGHSTPVPDGKNAMSIFSSATK
TDVRQDNAAGRAGSSSLTQVTDLAPSLHDLDNIFDNSDDDELGAVSPALRSSKMPAVGTE
DRPLGKDGRAAVPYPPTVADLQRMFPTPPSLEQHPAFSPVMNYKDGISSETVTALGMMES
PMVSMVSTQLTEFKMEVEDGLGSPKPEEIKDFSYVHKVPSFQPFVGSSMFAPLKMLPSHC
LLPLKIPDACLFRPSWAIPPKIEQLPMPPAATFIRDGYNNVPSVGSLADPDYLNTPQMNT
PVTLNSAAPASNSGAGVLPSPATPRFSVPTPRTPRTPRTPRGGGTASGQGSVKYDSTDQG
SPASTPSTTRPLNSVEPATMQPIPEAHSLYVTLILSDSVMNIFKDRNFDSCCICACNMNI
KGADVGLYIPDSSNEDQYRCTCGFSAIMNRKLGYNSGLFLEDELDIFGKNSDIGQAAERR
LMMCQSTFLPQVEGTKKPQEPPISLLLLLQNQHTQPFASLNFLDYISSNNRQTLPCVSWS
YDRVQADNNDYWTECFNALEQGRQYVDNPTGGKVDEALVRSATVHSWPHSNVLDISMLSS
QDVVRMLLSLQPFLQDAIQKKRTGRTWENIQHVQGPLTWQQFHKMAGRGTYGSEESPEPL
PIPTLLVGYDKDFLTISPFSLPFWERLLLDPYGGHRDVAYIVVCPENEALLEGAKTFFRD
LSAVYEMCRLGQHKPICKVLRDGIMRVGKTVAQKLTDELVSEWFNQPWSGEENDNHSRLK
LYAQVCRHHLAPYLATLQLDSSLLIPPKYQTPPAAAQGQATPGNAGPLAPNGSAAPPAGS
AFNPTSNSSSTNPAASSSASGSSVPPVSSSASAPGISQISTTSSSGFSGSVGGQNPSTGG
ISADRTQGNIGCGGDTDPGQSSSQPSQDGQESVTERERIGIPTEPDSADSHAHPPAVVIY
MVDPFTYAAEEDSTSGNFWLLSLMRCYTEMLDNLPEHMRNSFILQIVPCQYMLQTMKDEQ
VFYIQYLKSMAFSVYCQCRR
PLPTQIHIKSLTGFGPAASIEMTLKNPERPSPIQLYSPPF
ILAPIKDKQTELGETFGEASQKYNVLFVGYCLSHDQRWLLASCTDLHGELLETCVVNIAL
PNRSRRSKVSARKIGLQKLWEWCIGIVQMTSLPWRVVIGRLGRLGHGELKDWSILLGECS
LQTISKKLKDVCRMCGISAADSPSILSACLVAMEPQGSFVVMPDAVTMGSVFGRSTALNM
QSSQLNTPQDASCTHILVFPTSSTIQVAPANYPNEDGFSPNNDDMFVDLPFPDDMDNDIG
ILMTGNLHSSPNSSPVPSPGSPSGIGVGSHFQHSRSQGERLLSREAPEELKQQPLALGYF
VSTAKAENLPQWFWSSCPQAQNQCPLFLKASLHHHISVAQTDELLPARNSQRVPHPLDSK
TTSDVLRFVLEQYNALSWLTCNPATQDRTSCLPVHFVVL
TQLYNAIMNIL
Sequence length 2210
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Thyroid hormone signaling pathway   PPARA activates gene expression
Transcriptional regulation of white adipocyte differentiation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Dextro-looped transposition of the great arteries Transposition of the great arteries, dextro-looped rs1565995034, rs1565995146, rs1870202051, rs1029377279, rs869312707, rs1565997261, rs1566010195, rs1555246154, rs1566005476 N/A
Mental retardation intellectual disability rs1592939069, rs869025286, rs1870202051, rs869025287, rs886041448 N/A
Transposition Of Great Vessels Transposition of the great arteries, dextro-looped rs1565995146, rs1870202051, rs1029377279, rs869312707, rs1565997261, rs1566010195, rs1555246154, rs1566005476, rs1565995034 N/A
autism spectrum disorder Autism spectrum disorder rs1592919048 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer N/A N/A GWAS
Congenital Heart Disease congenital heart disease N/A N/A GenCC
Crohn Disease Crohn's disease N/A N/A GWAS
Dysmorphism cardiac anomalies - developmental delay - facial dysmorphism syndrome N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Agenesis of Corpus Callosum Associate 28645799, 30905399
Alcohol Related Disorders Associate 37512036
Apraxias Associate 25758992
Ataxia Associate 25712080, 28645799
Autistic Disorder Associate 25167861, 28645799
Carcinoma Renal Cell Associate 28626070
Chromosome 1p36 Deletion Syndrome Associate 25712080
Cleft Palate Associate 25712080
Clubfoot Associate 37512036
Cognition Disorders Associate 25167861